Variant report

Variant	nsv984351
Chromosome Location	chr16:72761841-72763767
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr16:72763500-72763650	Caco-2	colon:	n/a	n/a
2	CTCF	chr16:72763545-72763770	K562	blood:	n/a	chr16:72763732-72763750 chr16:72763640-72763656
3	CTCF	chr16:72763533-72763764	MCF-7	breast:	n/a	chr16:72763732-72763750 chr16:72763640-72763656
4	CTCF	chr16:72763600-72763750	Caco-2	colon:	n/a	chr16:72763732-72763750 chr16:72763640-72763656
5	CTCF	chr16:72763528-72763730	HepG2	liver:	n/a	chr16:72763640-72763656
6	CTCF	chr16:72763566-72763735	A549	lung:	n/a	chr16:72763640-72763656
7	CTCF	chr16:72763560-72763710	K562	blood:	n/a	chr16:72763640-72763656
8	CTCF	chr16:72762960-72762999	GM20000	blood:	n/a	n/a
9	CTCF	chr16:72763409-72763797	K562	blood:	n/a	chr16:72763732-72763750 chr16:72763640-72763656
10	CTCF	chr16:72763544-72763746	MCF-7	breast:	n/a	chr16:72763640-72763656
11	CTCF	chr16:72763590-72763736	Fibrobl	skin:	n/a	chr16:72763640-72763656
12	CTCF	chr16:72763630-72763670	GM19239	blood:	n/a	chr16:72763640-72763656
13	CTCF	chr16:72763660-72763810	MCF-7	breast:	n/a	chr16:72763732-72763750
14	CTCF	chr16:72763531-72763826	K562	blood:	n/a	chr16:72763732-72763750 chr16:72763640-72763656
15	CTCF	chr16:72763614-72763679	NHEK	skin:	n/a	chr16:72763640-72763656
16	CTCF	chr16:72763644-72763677	GM12891	blood:	n/a	n/a
17	CTCF	chr16:72763608-72763728	ProgFib	skin:	n/a	chr16:72763640-72763656
18	CTCF	chr16:72763597-72763719	HUVEC	blood vessel:	n/a	chr16:72763640-72763656
19	CTCF	chr16:72763607-72763697	GM19238	blood:	n/a	chr16:72763640-72763656
20	CTCF	chr16:72763561-72763781	H1-hESC	embryonic stem cell:	n/a	chr16:72763732-72763750 chr16:72763640-72763656
21	CTCF	chr16:72763593-72763708	Hela-S3	cervix:	n/a	chr16:72763640-72763656
22	CTCF	chr16:72763635-72763677	Gliobla	brain:	n/a	chr16:72763640-72763656
23	CTCF	chr16:72763537-72763750	MCF-7	breast:	n/a	chr16:72763732-72763750 chr16:72763640-72763656
24	CTCF	chr16:72763561-72763764	MCF-7	breast:	n/a	chr16:72763732-72763750 chr16:72763640-72763656
25	CTCF	chr16:72763560-72763710	HepG2	liver:	n/a	chr16:72763640-72763656
26	CTCF	chr16:72763553-72763728	H1-hESC	embryonic stem cell:	n/a	chr16:72763640-72763656
27	CTCF	chr16:72763538-72763799	K562	blood:	n/a	chr16:72763732-72763750 chr16:72763640-72763656
28	CTCF	chr16:72763540-72763690	MCF-7	breast:	n/a	chr16:72763640-72763656
29	CTCF	chr16:72763467-72763723	H1-hESC	embryonic stem cell:	n/a	chr16:72763640-72763656
30	CTCF	chr16:72763465-72763740	K562	blood:	n/a	chr16:72763640-72763656
31	CTCF	chr16:72763564-72763746	MCF-7	breast:	n/a	chr16:72763640-72763656
32	POLR2A	chr16:72762484-72762567	A549	lung:	n/a	n/a
33	POLR2A	chr16:72762468-72762556	A549	lung:	n/a	n/a
34	POLR2A	chr16:72762460-72762626	A549	lung:	n/a	n/a
35	POLR2A	chr16:72762446-72762607	Hela-S3	cervix:	n/a	n/a
36	POLR2A	chr16:72762308-72762394	K562	blood:	n/a	n/a
37	POLR2A	chr16:72762474-72762611	A549	lung:	n/a	n/a
38	POLR2A	chr16:72762461-72762594	Hela-S3	cervix:	n/a	n/a
39	POLR2A	chr16:72762462-72762594	H1-hESC	embryonic stem cell:	n/a	n/a
40	RAD21	chr16:72763411-72763723	H1-hESC	embryonic stem cell:	n/a	chr16:72763506-72763520
41	RAD21	chr16:72763572-72763739	K562	blood:	n/a	n/a
42	RAD21	chr16:72763505-72763723	K562	blood:	n/a	chr16:72763506-72763520
43	RAD21	chr16:72763361-72763829	H1-hESC	embryonic stem cell:	n/a	chr16:72763506-72763520 chr16:72763730-72763749 chr16:72763805-72763819
44	RAD21	chr16:72763480-72763725	HepG2	liver:	n/a	chr16:72763506-72763520
45	RAD21	chr16:72763529-72763815	H1-hESC	embryonic stem cell:	n/a	chr16:72763730-72763749
46	RAD21	chr16:72763483-72763788	HepG2	liver:	n/a	chr16:72763506-72763520 chr16:72763730-72763749
47	SMC3	chr16:72763587-72763731	K562	blood:	n/a	n/a

Variant related genes	Relation type
KRT18P18	TF binding region

Extended variants
information (count: 92 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:92 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs565609764	chr16:72761851-72761852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs292913	chr16:72761858-72761859	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs187660560	chr16:72761869-72761870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs569206534	chr16:72761899-72761900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs552434474	chr16:72761928-72761929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs536758160	chr16:72761932-72761933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs139561666	chr16:72761954-72761955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs566680126	chr16:72761978-72761979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs533767352	chr16:72762000-72762001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs149328386	chr16:72762026-72762027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs534465906	chr16:72762071-72762072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs570455587	chr16:72762078-72762079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs191302115	chr16:72762083-72762084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs556128622	chr16:72762085-72762086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs375221028	chr16:72762107-72762108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs574412767	chr16:72762142-72762143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs541927144	chr16:72762158-72762159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs553610864	chr16:72762159-72762160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs573367025	chr16:72762166-72762167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs182248580	chr16:72762168-72762169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs144586729	chr16:72762190-72762191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs377287066	chr16:72762298-72762299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs139520678	chr16:72762312-72762313	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs544575350	chr16:72762327-72762328	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs562916164	chr16:72762338-72762339	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs530109774	chr16:72762343-72762344	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs548641915	chr16:72762372-72762373	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs566887061	chr16:72762378-72762379	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs527475944	chr16:72762416-72762417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs554652517	chr16:72762448-72762449	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs552000658	chr16:72762459-72762460	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs55716864	chr16:72762516-72762517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs570369274	chr16:72762528-72762529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs537759653	chr16:72762542-72762543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs555855412	chr16:72762550-72762551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs568072112	chr16:72762553-72762554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs188012930	chr16:72762554-72762555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs553819114	chr16:72762564-72762565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs572216599	chr16:72762576-72762577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs540781426	chr16:72762584-72762585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs559204444	chr16:72762593-72762594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs376199366	chr16:72762637-72762638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs577577652	chr16:72762643-72762644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs544911773	chr16:72762663-72762664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs537072321	chr16:72762682-72762683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs292914	chr16:72762708-72762709	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs530090490	chr16:72762712-72762713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs541899509	chr16:72762759-72762760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs557211556	chr16:72762810-72762811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs377322672	chr16:72762882-72762883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Schizophrenia	22958593	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	18632612	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16702952	CNVD
Medulloblastoma	16968546	CNVD
Prostate cancer	19242612	CNVD
Cancer	22429812	CNVD
Ewing''s sarcoma	21437220	CNVD
Ewing''s sarcoma	22429812	CNVD
Melanoma	18172304	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Multiple myeloma	21628407	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	17001317	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Prostate cancer	16573809	CNVD
Chordoma	18071362	CNVD
Prostate cancer	17245344	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute myeloid leukemia	16864856	CNVD
Infiltrating lobular breast cancer	19191266	CNVD
T-cell lymphomas	19863542	CNVD
Hepatocellular carcinoma	16750200	CNVD
Medulloblastoma	16783165	CNVD
Neuroblastoma	21899760	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	18628472	CNVD
Breast cancer	21806811	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	21509527	CNVD
Melanoma	22183965	CNVD
small cell lung cancer	20016488	CNVD
Ependymoma	18628472	CNVD
Ewing''s sarcoma	18628472	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:72750600-72763200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr16:72757400-72770000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr16:72758000-72763200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr16:72758000-72770000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr16:72759600-72769800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr16:72763000-72763600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr16:72763200-72763400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr16:72763200-72763600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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